Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development - PubMed (original) (raw)

. 2006 Apr 11;103(15):5676-81.

doi: 10.1073/pnas.0509562103. Epub 2006 Apr 3.

Francisco M Salzano, Adrianna Mostowska, Wieslaw H Trzeciak, Andrés Ruiz-Linares, José A B Chies, Carmen Saavedra, Cleusa Nagamachi, Ana M Hurtado, Kim Hill, Dinorah Castro-de-Guerra, Wilson A Silva-Júnior, Maria-Cátira Bortolini

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Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development

Tiago V Pereira et al. Proc Natl Acad Sci U S A. 2006.

Abstract

Large differences in relation to dental size, number, and morphology among and within modern human populations and between modern humans and other primate species have been observed. Molecular studies have demonstrated that tooth development is under strict genetic control, but, the genetic basis of primate tooth variation remains unknown. The PAX9 gene, which codes for a paired domain-containing transcription factor that plays an essential role in the development of mammal dentition, has been associated with selective tooth agenesis in humans and mice, which mainly involves the posterior teeth. To determine whether this gene is polymorphic in humans, we sequenced approximately 2.1 kb of the entire four-exon region (exons 1, 2, 3 and 4; 1,026 bp) and exon-intron (1.1 kb) boundaries of 86 individuals sampled from Asian, European, and Native American populations. We provided evidence that human PAX9 polymorphisms are limited to exon 3 only and furnished details about the distribution of a mutation there in 350 Polish subjects. To investigate the pattern of selective pressure on exon 3, we sequenced ortholog regions of this exon in four species of New World monkeys and one gorilla. In addition, orthologous sequences of PAX9 available in public databases were also analyzed. Although several differences were identified between humans and other species, our findings support the view that strong purifying selection is acting on PAX9. New World and Old World primate lineages may, however, have different degrees of restriction for changes in this DNA region.

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Conflict of interest statement

Conflict of interest statement: No conflicts declared.

Figures

Fig. 1.

Fig. 1.

Structure predictions and multiple alignment of the deduced amino acid sequences of PAX9 exon 3 from several species. Secondary protein structure prediction of the wild-type human exon 3 with

psipred

(42) is shown above the alignment. Cylinders represent predicted α-helices and lines predicted coiled regions. Confidences indicating the reliability of the prediction are also shown (9 = high and 0 = poor, respectively). The arrow indicates the position where the Ala240Pro polymorphism is located. The alignment of PAX1 homolog regions is also shown.

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